This article presents a case of primary hypomagnesemia with secondary hypocalcemia in an adult. The patient′s medical history and treatment were reviewed. Following oral magnesium supplementation, the patient′s clinical symptoms improved and the blood magnesium level increased. This report aims to raise clinical awareness of primary hypomagnesia with secondary hypocalcemia.

Objective:To observe the effect of shift work on the stability of the circadian clock and insulin sensitivity in non-overweight/obese individuals with normal blood glucose, and explore underlying connection.Methods:Female shift working nurses in the Department of Blood Transplantation and non-shift working nurses in the Health Management Center in the First Affiliated Hospital of Zhengzhou University were divided into shift worker group (SW group) and non-shift worker group (NSW group). Serum inflammatory factors [interleukin-6 (IL-6), tumor necrosis factor-α(TNF-α)], adipokines (adiponectin, leptin, chemerin, visfatin), and melatonin levels were measured using enzyme linked immunosorbent assay (ELISA). Realtime fluorescence quantitative PCR was performed to detect peripheral blood circadian clock genes circadian locomotor output cycles protein kaput(Clock) and brain and muscle ARNT-like protein 1(Bmal1). Cortisol and fasting insulin were measured by chemiluminescent microparticle immunoassay, and HbA 1C was measured by capillary electrophoresis. In addition, visceral fat area (VFA) was assessed with bioelectrical impedance analyzer, and mid-sleep time composite phase deviations (CPD) was calculated based on the International Physical Activity Short Questionnaire. Results:SW group had lower serum level of melatonin ( P=0.023) and higher cortisol ( P=0.001) than the NSW group, and altered mRNA expression of Clock and Bmal1 ( P=0.034, P=0.047). Fasting blood glucose and HbA 1C in the SW group, although in the normal range, had been higher than in the NSW group ( P=0.011, P=0.033). Although body mass index was normal in SW group, VFA had been higher than that of the NSW group ( P=0.010). And homeostasis model assessment for insulin resistance (HOMA-IR), IL-6, TNF-α, leptin, chemerin, and visfatin were significantly higher in the SW group than NSW group ( P=0.033, P=0.012, P=0.001, P=0.011, P=0.021, P=0.007). In addition, adjusting for body mass index and activity factors revealed a significant positive correlation between CPD and VFA ( r=0.434, P=0.049), inflammatory factors IL-6 ( r=0.514, P=0.017) and TNF-α ( r=0.700, P<0.001) and pro-inflammatory adipokines leptin ( r=0.473, P=0.030), chemerin ( r=0.439, P=0.047), visfatin ( r=0.521, P=0.015). Conclusion:Shift work can affect circadian clock, with increased visceral adiposity, pro-inflammatory adipokines, inflammatory factors and decreased insulin sensitivity in women without overweight/obese.

Objective:To summarize the clinical manifestations and molecular genetic characteristics of 5 families with maturity-onset diabetes mellitus of the young 2 (MODY2) caused by glucokinase (GCK) gene mutations.Methods:Clinical data and biochemical results of probands were collected. Peripheral blood samples of probands and first-degree family members were collected and whole exome gene was detected using second-generation sequencing. After comparing against the database, the suspected pathogenic sites were selected for Sanger sequencing verification.Results:All the 5 probands presented with mild fasting hyperglycemia, HbA 1C<7.5%, and no symptoms of thirst, polydipsia or polyuria. There were 6 mutants in 5 families, including M1: c.555delT (P.leu186CysFS Ter19) and M3: c. 263T>A (p.Met88Lys) which haven′t been reported before. During the follow-up, all probands received life-style intervention, except 2 pregnant women who should consider insulin treatment if necessary according to fetal genotypes. Conclusion:Among patients who meet the diagnostic criteria for MODY, MODY2 screening should be performed for children or pregnant women with mild hyperglycemia and family history. GCK gene detection is the gold standard for diagnosis, and accurate diagnosis will be conducive to the selection of appropriate treatment.

The data of 10 patients with pituitary metastases were retrospectively analyzed, including tumor origin, clinical features, imaging characteristics, diagnosis and differential diagnosis, treatment and prognosis. The results showed that the average age of 10 patients at the time of consultation was 62.0 years. Nine metastases were originated from lung cancer and one from breast cancer. All patients started with central diabetes insipidus, and some of them accompanied with hypopituitarism, as well as occupancy manifestations such as headache, blurred vision, etc. MRI showed abnormalities in the pituitary stalk and posterior pituitary, four of which showed characteristic " dumbbell-shaped" changes. Three patients with epidermal growth factor receptor(EGFR)-mutated lung adenocarcinoma revealed improvement in both primary lesion and pituitary metastases after targeted therapy.

Objective:To identify anti-dipeptidyl-peptidase-like protein 6 (DPPX) antibody in patients with encephalitis of unknown etiology and describe the clinical features of anti-DPPX antibody-associated encephalitis in Chinese patients.Methods:For patients registered in the Peking Union Medical College Hospital Encephalitis and Paraneoplastic Syndrome Registration Project from 2016 to 2019 with negative findings in autoimmune encephalitis routine antibody profile and paraneoplastic antibody profile, but with positive tissue-based assay (TBA) results, further tests for rare antibodies, including cell-based assay (CBA) of anti-DPPX antibody, were performed. Patients positive for anti-DPPX antibody were enrolled and the clinical data were collected.Results:Two patients with anti-DPPX antibody-associated encephalitis were found from 2016 to 2019 among about 15 000 patients. Both were females, aged 46 and 75 years. One patient had diarrhea, cachexia, cognitive dysfunction, agitation, myoclonus, tremor, and seizures. The other had cognitive impairment, restlessness, memory loss, disorientation, and sleep disturbance. The second patient had medical history of systemic lupus erythematosus and secondary Sj?gren′s syndrome.Conclusions:TBA should be combined with CBA in identification of anti-DPPX antibody to confirm the diagnosis. Anti-DPPX antibody-associated encephalitis has clinical manifestations of encephalopathy with diarrhea and cachexia, and can coexist with systemic lupus erythematosus.

Objective: To compare two Taq-man Real-time PCR methods for detection of hepatitis B virus covalently closed circular DNA (HBV cccDNA) in serum or liver tissue. Methods: Two sets of primers and probes (common Taq-Man probe and MGB Taq-Man probe) were synthesized according to the reference papers, and the sensitivity and specificity of the two methods were compared using prepared plasmid as standard curve, and HBV DNA samples were exlracted from serum and liver tissue samples of hepatitis B patients. The samples were tested with both methods separately before or after the digestion with a Plasmid-Safe ATP-dependent Dnase (PSAD). Results: Both of these two kinds of detection methods had a good linear relationship with the prepared plasmid as standard curve (R² 0.989 or 0.976 respectively, CV were within 4% ), and obtained good specificity when the HBV DNA samples were tested before or after digestion with PSAD. The common Taq-Man probe had lower Ct value than MGB probe when the samples in the same concentration. Conclusions Both methods can be used for HBV cccDNA detection. The common Taq-Man probe has slightly higher sensitivity than MGB probe, while the MGB probe has lower background than the common Taq-Man probe in our test. One can select the appropriate probe according to the need.

[Summary] To discuss the clinical features and treatment of primary adrenal lymphoma( PAL) with empty sella(ES).The lymphoma of the patient was nonspecific,the levels of serum sodium, cortisol, adrenocorticotropic hormone, and gonadotropin were decreased.MRI confirmed ES, CT showed bilateral adrenal enlargement.CT-guided fine-needle aspiration biopsy of the adrenal gland revealed a cytological diagnosis of diffused large B cell lymphoma( DLBCL).The patient had received R-CHOP chemotherapy, which results in a complete functional recovery and the tumoral masses disappeared.PAL combined with ES was rarely reported, which is difficult to diagnose due to complex hormone levels.

Objective To confirm a case of pachydermoperiostosis (primary hypertrophic osteoarthropathy) at the molecular level by gene sequencing.Methods Peripheral blood samples were obtained from a 26-year-old male patient with pachydermoperiostosis and his parents,and DNA was extracted from these blood samples.Polymerase chain reaction (PCR) was performed to amplify all the exons of HPGD and SLCO2A1 genes,and gene sequencing to identify gene mutations.According to sequencing results,the spatial structure of relevant proteins was predicted.Results Gene sequencing showed a homozygous frame-shifting mutation c.310_31 1delCT (p.L104AfsX3) in exon 3 of the HPGD gene in the patient.His mother was a heterozygous carrier of the mutation,but no mutation was identified in his father.The prediction of spacial structure of proteins revealed that the above gene mutation could shorten the length of the encoded peptide by about 60％.Conclusion Typical clinical manifestations and imaging findings are helpful for the primary diagnosis of pachydermoperiostosis,while mutation analysis of HPGD and SLCO2A1 genes is a main approach to its final diagnosis.

Objective:To discuss dexamethasone on proliferation of mouse thyroid follicular cells and apoptosis. Methods:Taken BALB/c mice thyroid tissue to trypsin+Ⅱcollagenase digestion organizations get thyroid follicular cells,and expression of thyro-globulin determined whether or not the target cell. Then different concentrations of dexamethasone to stimulate target cells,and the use of MTT,flow cytometry cell proliferation rate,apoptosis rate and the apoptosis-related gene expression analysis. Results: Trypsin joint type Ⅱ collagenase treatment of thyroid tissue to obtain a stable passage of thyroid follicular epithelial cells,and cells stably expressing thyroglobulin. At the same time, different concentrations of dexamethasone on cell proliferation difference was statistically significant (F=8. 544, P<0. 05 ), and the suppression of drug action have interaction ( F = 4. 532, P<0. 05 );in addition, differently dexamethasone concentration 10-6 mol/L, 10-5 mol/L, 10-4 mol/L, the apoptosis rates were 13. 39% ± 0. 79%, 17. 43% ± 1. 38%, 26. 42%±1. 74%,both with 0 mol/L to plug betamethasone 4. 51%± 0. 06% apoptosis rate differences were statistically significant (P<0. 05,P<0. 01),while the difference in the expression of apoptotic genes trend still showed a dose-dependent manner. Conclusion:Dexamethasone can effectively inhibit thyroid follicular cell proliferation and induce apoptosis through a variety of apoptotic pathways.

Objective To investigate the effect of age on the association between normal thyroid hormone level and coronary artery disease (CAD).Methods A total of 1163 euthyroid patients undergoing coronary angiography (CAG) from January 2013 to June 2014 were enrolled and categorized into 2 groups:the young and middle-aged group (＜60 years,n=602) and the elderly group (≥60 years,n=561),and each group was sub grouped into the CAD and non-CAD group according to CAG.Height,body weight,and levels of serum lipid,fasting blood glucose,glycosylated hemoglobin,free triiodothyronine (FT3),free thyroxine (FT4) and thyroid-stimulating hormone (TSH) were measured.Results In the youth and middle-aged group,309 patients (51.3％) were diagnosed as CAD,and there was no significant difference in the levels of FT3,FT4 and TSH between CAD and non-CAD patients [(5.3±0.6)mmol/L vs.(5.3±0.5)mmol/L,(11.8 ±1.9)mmol/L vs.(11.8±1.8) mmol/L,(2.0±1.1) mIU/L vs.(2.0±1.0)mIU/L,all P＞0.05].In the elderly group,357 patients (63.6％) were diagnosed as CAD,and the FT3 level was lower in the CAD patients than in the non-CAD patients[(5.1±0.6)mmol/L vs.(5.2±0.5) mmol/L,P＜0.01].Logistic regression demonstrated that FT3 was an independent influencing factor for CAD in elderly patients (OR=0.564,P＜0.01).Conclusions The association between normal thyroid hormones levels and CAD varies along with age.Thyroid hormones have no relationships with CAD in the young and middle-aged people.The decline of FT3 level may increase the risk of CAD in the elderly.